MX1 (GeneID: 4599) | Homo sapiens
Description: MX dynamin like GTPase 1 [Source:HGNC Symbol;Acc:HGNC:7532]
Synonyms: MxA, IFI-78K, MX, IFI78
Other ID(s): HGNC:7532, ENSG00000157601
Protein Accession Numbers: ENST00000441677, ENST00000288383, NP_002453, ENST00000419044, NP_001138397, ENST00000398600, ENST00000427464, NP_001269849, ENST00000417963, ENST00000455164, ENST00000398598, ENST00000424365, NP_001171517, ENST00000413778
Statistics: ClinVar(18) gnomAD(1878) COSMIC(776) PTM(29)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000288383 ENST00000398598 You are here now! ENST00000398600 You are here now! ENST00000413778 ENST00000417963 ENST00000419044 ENST00000424365 ENST00000427464 ENST00000441677 ENST00000455164 You are here now! NP_001138397 You are here now! NP_001171517 You are here now! NP_001269849 NP_002453 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00350 Dynamin_N Dynamin family 73-249 CL0023 P-loop_NTPase Homo sapiens
PF01031 Dynamin_M Dynamin central region 259-547 Homo sapiens
PF02212 GED Dynamin GTPase effector domain 569-660 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Fanconi Anemia Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.63 0.621
Influenza Virus Diseases ; Respiratory Tract Diseases ; 0.63 0.621
Leukemia, Myelocytic, Acute Neoplasms ; 0.63 0.621
Malignant neoplasm of stomach Neoplasms ; Digestive System Diseases ; 0.63 0.621
Acute Myeloid Leukemia, M1 Neoplasms ; 0.63 0.621
Stomach Neoplasms Neoplasms ; Digestive System Diseases ; 0.63 0.621
Myocardial Ischemia Cardiovascular Diseases ; 0.63 0.621
Hereditary Diffuse Gastric Cancer Neoplasms ; Digestive System Diseases ; 0.63 0.621
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.63 0.621
NO RESULT FOUND
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